MIPEP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

Disease associations (Open Targets)

• Mitochondrial disorder due to a defect in mitochondrial protein synthesis

  0.77

• neurodegenerative disease

  0.52

• cardiomyopathy

  0.40

• left ventricular noncompaction

  0.40

• Floppy infant

  0.40

• hereditary disease

  0.34

• intracranial hemorrhage

  0.29

• cutaneous melanoma

  0.25

• inborn mitochondrial metabolism disorder

  0.19

• mitochondrial disease

  0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)